Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2009 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2012 2014
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10824095
rs10824095
ADK
2 0.925 0.040 10 74176853 5 prime UTR variant C/G;T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1260186456
rs1260186456
ABCC1
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs12934241
rs12934241
MMP2
2 0.925 0.040 16 55486666 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1422359334
rs1422359334
GSTK1 ; LOC105375545
2 0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1460631883
rs1460631883
MTG1
3 0.882 0.120 10 133420041 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1482105290
rs1482105290
DLEU2 ; TRIM13
2 0.925 0.040 13 50012772 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs149104283
rs149104283
SLCO1B3-SLCO1B7
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2006 2006
dbSNP: rs193302889
rs193302889
SLC37A4
3 0.882 0.120 11 119029289 missense variant A/T snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2074549
rs2074549
VCP
2 0.925 0.040 9 35061506 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2007 2007
dbSNP: rs2244613
rs2244613
CES1
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2015 2015
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
8 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 0.010 1.000 1 2015 2015